Optimizing a Canadian SMA Registry for trial readiness

To optimize a Canadian SMA Registry for trial readiness, we have strengthened our data management and governance structure by leveraging the LASSO platform with experienced developers and data managers. LASSO is a web-based research data management platform designed to store, cross-link, curate, visualize and share many types of research data, ideally suited to manage large multi-modal multi-site datasets acquired over time in a longitudinal study.

We are presently working to streamline the data collected within the Canadian SMA Registry to ensure alignment with other international SMA registries (see Core Outcome Set).

Core Outcome Set

The INFORM SMA research team, together with national experts (including patients, caregivers, patient organizations, healthcare providers, policy advisors, payers, and industry representatives) is building on the TREAT-NMD SMA Core Dataset to determine how best to measure the outcomes in the core outcome set. The results of this process will finalize the recommended core outcome measurements and definitions for children and adolescents with SMA across different ages and functional abilities. This will be integrated into the Canadian SMA Registry. We are currently conducting a survey using a Delphi consensus methodology. Round 1 was completed in Spring 2023, and we are preparing to launch Round 2 of the survey shortly.

Development of a fit-for-purpose exergame

The use of exergames (exercise-based video games) for rehabilitation has increased in popularity in recent years. In partnership with patients, parents/caregivers, physical therapists, physicians, and data scientists from F. Hoffmann-La Roche Ltd., we co-developed a fit-for-purpose exergame to promote upper limb and core activity in youth with neuromuscular disorders. The platform used for the exergame is the Microsoft Azure Kinect which uses sensors to capture body movements and measure progress.

To inform the design of the exergame, we conducted online surveys and semi-structured interviews with patient groups and physiotherapists to identify needs, preferences, and barriers to implementation. The development phase consisted of an iterative process in which physiotherapists provided feedback to ensure that exercises were transformed into safe and intuitive movements to be performed within the game. Youth advisors with rare disease lived experience were also consulted to ensure that, in addition to exercise and customization requirements, game elements were focused on creating an enjoyable and engaging game.

Registry-based trial of exergaming in SMA

We have completed a feasibility study for this exergame across two Canadian sites (Montreal & Vancouver). The primary goal was to assess the usability and acceptability of the exergame in youth with SMA and neurotypical peers. The results will be presented at the American Academy of Neurology Annual Meeting in April 2023.

We are planning a registry-based randomized controlled trial, testing the effectiveness of the exergame in promoting physical activity in children and youth with SMA. This trial is supported by a Clinical Trials operating grant from the Canadian Institutes of Health Research (CIHR). The trial protocol is being finalized by the INFORM SMA Methods research team.

Our clinical trial will use the optimized Canadian SMA Registry to support enrollment and data collection. This registry-based design can overcome the common constraints of randomized trials in small patient populations that have led to a comparative paucity of randomized trials in pediatric rare disease populations, including SMA.